Linked Data
ClinVar Variation Id:
2983674
ClinVar RCV Id:
RCV003840769
dbSNP Id:
rs757470750
ExAC:
11:64520992 T / C
gnomAD v2:
11-64520992-T-C
gnomAD v4:
11-64753520-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753520T>C , CM000673.2:g.64753520T>C | GRCh38 |
| NC_000011.9:g.64520992T>C , CM000673.1:g.64520992T>C | GRCh37 |
| NC_000011.8:g.64277568T>C | NCBI36 |
| NG_013018.1:g.12196A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1402A>G MANE Select | ENSP00000164139.3:p.Ile468Val | |
| ENST00000164139.3:c.1402A>G | ENSP00000164139.3:p.Ile468Val | |
| ENST00000377432.7:c.1138A>G | ENSP00000366650.3:p.Ile380Val | |
| NM_001164716.1:c.1138A>G | NP_001158188.1:p.Ile380Val | |
| NM_005609.2:c.1402A>G | NP_005600.1:p.Ile468Val | |
| NM_005609.3:c.1402A>G | NP_005600.1:p.Ile468Val | |
| NM_005609.4:c.1402A>G MANE Select | NP_005600.1:p.Ile468Val |